Good Morning.
I am posting today to offer those of you with undiagnosed diseases a sliver of hope. There is another path to answers, but it will take persistence, a significant personal investment in time, and some luck. The effort will not guarantee you acceptance into the program. So, you will need to mentally prepare for that before making this investment!

The National Institute of Health (NIH) Bethesda, MD is an amazing institution, hosting clinical research studies aimed at diagnosing rare, undiagnosed illnesses. The NIH has a Undiagnosed Disease Network (UDN), which consists of seven (7) clinical hospitals nationwide, consisting of a consortium of specialty doctors (the crème de la crème) from all over the world to conduct clinical research on qualified patients (young and old) from all over the world. Although your testing information is used for their "Studies", you the patient leave with a plethora of valuable information and/or possibly a cure for your ailment. Because its a research facility, traditional insurance constraints will not dictate your care. NIH is "Medicine for Passion/Science", not "Medicine for Profit".

Traditional Insurance dictate care. This cultivates a "treat the symptoms" mentality. Insurance Profit will not allow for exploratory testing to actually "define" the "Root Cause". If you were cured, medicine for profit does not prosper. Because the NIH program is Government funded, their mission is to define the root cause and expend whichever resources are necessary to do so. This is accomplished thru funded clinical research projects. There is no cost to the patient (airfare, meals, hospital stay and/or medications). The price of admission is your data! As such, they have a significant vetting process with review board approval prior to be accepted into the UDN program.

The application process is exhaustive. It took me 2-months to complete the medical history portfolio and provide the supporting medical documentation for my child from the onset of birth until the application date. Hers was an extreme case, but the application process is daunting…it will "consume" you for several weeks. BUT, it was well worth the effort.

I posted on this forum in January 2019 about my 16-year old daughter who had struggled with Autoimmune/Auto Inflammatory Disease her entire life. Post-puberty (13), her symptoms escalated to extraordinary swelling and internal bleeding. The swelling in her face head and neck were so grotesque, she experienced necrosis on tissue on her face, inside her mouth and nasal cavities, disfiguring her face and robbing her of her senses of smell and taste.

At 16, the symptoms returned, this time the extraordinary swelling affected her face and head, causing the adipose tissue surrounding her optic nerves to swell, constricting the blood supply to her optic nerve, taking away her eyesight. Each reaction seems to get more severe, occurring with less reaction time, with increasingly dangerous effects to my child.

When granted an appointment at Mayo in January 2019, we were very excited at the prospect our case would finally get the attention it needed. Sadly, Mayo is not exempt from the "Medicine for Profit" constraints, and we felt as though we were just run thru their "puppy mill" with only the baseline attention to defining a root cause…hours and hours of interviews, a few tests and we never heard from anyone again. It was a colossal waste of our resources and time.

We found The NIH by posting our daughters story on Facebook, hoping someone, somewhere would say "this same thing happened to me". Although that did not happen, a family reached out to us o the NIH. Their hereditary blood disorder condition was not cured, but the extensive genetic research led them down a path to understand the physiological process which was creating the recurrence of their condition. As such, they were able to effectively treat the disorder and return to a semblance of normalcy.

Our family spent a week surrounded by 15-20 vasculitis, auto immune and auto inflammatory specialists. My daughter was their only patient responsibility. They researcher our application, had a plan form my child when we walked thru the door and exhausted every resource at their disposal to understand and diagnose her condition. Although the root cause of her outbreaks could not be determined, their extensive cancer and AIDS research led them to conduct lab testing of her cells, coupled with results of Whole Exome and genome sequencing, identify inflammatory markers in her body that NO ONE had ever tested for. These markers led them down a path to inhibitor drugs that would intervene in the body's immune response and theoretically stop the adverse reaction.

Today (6 months to the day we left NIH), she had another reaction. We are at the KU Medical Center PICU in Kansas City right now. The drugs given to my daughter were administered and successfully quelled the reaction. We still do not have a Root Cause or 100% Diagnosis or Cure, but NIH may have saved my daughter's life today.

Although I do not contribute to this forum, I do read it weekly. the mindless criticism of Mayo by some is mentally exhausting. But, given the circumstances of today, I encourage those of you who have not gotten the answers you seek, to access the NIH website at: https://www.nih.gov/

Do the research, find their ongoing and upcoming clinical studies and find the resolve to get yourself a spot in the clinic. It just may save your life.

Best wishes to you all. May you find the answers you are looking for!
Godspeed!

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@keithwalker This is an excellent response and you are a wonderful dad! The National Institute of Health is also a great resource for medical literature that helped me by explaining my symptoms for a spine problem that my doctors were missing. That is how I came to Mayo after surgical intervention was refused to me by several local surgeons. I am so glad that you advocated for your daughter and you can share how you did this. I was wondering if there was any possibility of some kind of toxicity or exposure to something that is triggering autoimmunity, and if that was something that was considered? For example, it could be environmental chemicals or something like a reaction to dental restoration materials if that applies to her situation.

I have an autoimmune thyroid condition that my environmental medicine doctor believes was caused by exposure to mercury from old dental amalgam filings that had been in my mouth for 40+ years that were previously presumed to be safe. It was only after they were removed that my blood work could detect the antibody levels against my thyroid and they were much lower; prior to this, the levels were off the charts and could not be read. The doctor who pioneered the field of environmental medicine started the Environmental Health Center in Dallas and published some detailed volumes for doctors that can be purchased about the biochemistry of how the body functions and detoxes as well as how electromagnetic fields affect this. They see patients with chemical sensitivities. I also see a biological dentist who uses safer materials and because I also have old root canals that are causing problems, I am discussing this with my dentist. The material used to plug a tooth in a root canal contains cadmium, a heavy metal and over time that can leak from the tooth with the bacterial infection and this is the dilemma that I'm facing now because of trauma to my teeth when I was a kid. Mainstream medicine and dentistry may not be looking at environmental factors, but it is possible to have a reaction to something foreign that is stored in body tissues and triggers an autoimmune attack.

You may also be interested in a book from an author who recovered from an autoimmune problem. Here are links both.
Environmental Health Center Dallas https://www.ehcd.com/
The Autoimmune Epidemic https://donnajacksonnakazawa.com/autoimmune-epidemic/

My dentist discussed the work of Dietrich Klinghardt M.D., Ph.D with me because of a new metal free dental implant that he helped develop and I found this on the website. It explains some issues of detoxing from metals and how metals interfere. I found it interesting, but anyone engaging in a metal detox regimen should do this under a doctor's supervision because the patient is exposed to the toxins again when they are pulled out of the tissues unless there is a pathway to elimination from the body.
https://klinghardtinstitute.com/wp-content/uploads/2016/01/Explore-Neurotoxin-protocol.pdf
Keep searching and thinking outside the box. You might find the cause.

Jennifer

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@keithwalker This is an excellent response and you are a wonderful dad! The National Institute of Health is also a great resource for medical literature that helped me by explaining my symptoms for a spine problem that my doctors were missing. That is how I came to Mayo after surgical intervention was refused to me by several local surgeons. I am so glad that you advocated for your daughter and you can share how you did this. I was wondering if there was any possibility of some kind of toxicity or exposure to something that is triggering autoimmunity, and if that was something that was considered? For example, it could be environmental chemicals or something like a reaction to dental restoration materials if that applies to her situation.

I have an autoimmune thyroid condition that my environmental medicine doctor believes was caused by exposure to mercury from old dental amalgam filings that had been in my mouth for 40+ years that were previously presumed to be safe. It was only after they were removed that my blood work could detect the antibody levels against my thyroid and they were much lower; prior to this, the levels were off the charts and could not be read. The doctor who pioneered the field of environmental medicine started the Environmental Health Center in Dallas and published some detailed volumes for doctors that can be purchased about the biochemistry of how the body functions and detoxes as well as how electromagnetic fields affect this. They see patients with chemical sensitivities. I also see a biological dentist who uses safer materials and because I also have old root canals that are causing problems, I am discussing this with my dentist. The material used to plug a tooth in a root canal contains cadmium, a heavy metal and over time that can leak from the tooth with the bacterial infection and this is the dilemma that I'm facing now because of trauma to my teeth when I was a kid. Mainstream medicine and dentistry may not be looking at environmental factors, but it is possible to have a reaction to something foreign that is stored in body tissues and triggers an autoimmune attack.

You may also be interested in a book from an author who recovered from an autoimmune problem. Here are links both.
Environmental Health Center Dallas https://www.ehcd.com/
The Autoimmune Epidemic https://donnajacksonnakazawa.com/autoimmune-epidemic/

My dentist discussed the work of Dietrich Klinghardt M.D., Ph.D with me because of a new metal free dental implant that he helped develop and I found this on the website. It explains some issues of detoxing from metals and how metals interfere. I found it interesting, but anyone engaging in a metal detox regimen should do this under a doctor's supervision because the patient is exposed to the toxins again when they are pulled out of the tissues unless there is a pathway to elimination from the body.
https://klinghardtinstitute.com/wp-content/uploads/2016/01/Explore-Neurotoxin-protocol.pdf
Keep searching and thinking outside the box. You might find the cause.

Jennifer

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Thank you for the response and the insightful information. Godspeed to you and have a wonderful Thanksgiving! Despite all of our adversity, we do have a lot to be thankful for.

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Thank you for the response and the insightful information. Godspeed to you and have a wonderful Thanksgiving! Despite all of our adversity, we do have a lot to be thankful for.

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mayo clinic has changed a lot since 2010 and treatment for illness have changed. I have fibromyalgia and had a stroke. I am dealing with a kidney stone now with a super fibromyalgia flare up. My local doctors canceled kidney stone surgery because of my short of breath, heart palpation, and stroke history. The fibromyalgia support is you will always have flare ups. Returned to mayo but my general Internal doctor is in another dept and I was assigned a N.P. We don't get along and I have asked to change but was told have to wait one year. WHY? I was taught not everyone gets along and can talk to everyone. So WHY do I need to wait one year for stone to get bigger, more stress, more pain, and more diculities with surgery later. How do I get better help now?

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Keith, you are correct…there is much for which to be grateful. Blessings to you and your family; may you have a beautiful Thanksgiving and holiday.

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mayo clinic has changed a lot since 2010 and treatment for illness have changed. I have fibromyalgia and had a stroke. I am dealing with a kidney stone now with a super fibromyalgia flare up. My local doctors canceled kidney stone surgery because of my short of breath, heart palpation, and stroke history. The fibromyalgia support is you will always have flare ups. Returned to mayo but my general Internal doctor is in another dept and I was assigned a N.P. We don't get along and I have asked to change but was told have to wait one year. WHY? I was taught not everyone gets along and can talk to everyone. So WHY do I need to wait one year for stone to get bigger, more stress, more pain, and more diculities with surgery later. How do I get better help now?

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@leslon, you might consider contacting the Office of Patient Experience to share about your experience with the NP. Here is more information: https://www.mayoclinic.org/about-mayo-clinic/patient-experience

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